Revel Score:
ENST00000311895 (MANE Select)
0.495
ENST00000389138
0.495
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948144G>C , CM000678.2:g.13948144G>C | GRCh38 |
| NC_000016.9:g.14042001G>C , CM000678.1:g.14042001G>C | GRCh37 |
| NC_000016.8:g.13949502G>C | NCBI36 |
| NG_011442.1:g.32988G>C , LRG_463:g.32988G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2686G>C | ENSP00000507912.1:p.Asp896His | |
| ENST00000683962.1:c.*2242G>C | ENSP00000506854.1:n.*2242G>C | |
| ENST00000311895.8:c.2548G>C MANE Select | ENSP00000310520.7:p.Asp850His | |
| ENST00000311895.7:c.2548G>C | ENSP00000310520.7:p.Asp850His | |
| ENST00000389138.7:n.1825G>C | ||
| NM_005236.2:c.2548G>C , LRG_463t1:c.2548G>C | NP_005227.1:p.Asp850His | |
| XM_011522424.1:c.2686G>C | XP_011520726.1:p.Asp896His | |
| XM_011522425.1:c.2005G>C | XP_011520727.1:p.Asp669His | |
| XM_011522426.1:c.1759G>C | XP_011520728.1:p.Asp587His | |
| XM_011522427.1:c.1198G>C | XP_011520729.1:p.Asp400His | |
| XR_932805.1:n.2707G>C | ||
| XM_011522424.3:c.2686G>C | XP_011520726.1:p.Asp896His | |
| XM_017023043.2:c.1759G>C | XP_016878532.1:p.Asp587His | |
| NM_005236.3:c.2548G>C MANE Select | NP_005227.1:p.Asp850His |